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ISSN 2070-8718 (Print)

2014, Number 3

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Rev Cub Gen 2014; 8 (3)

Patients with chromosome insertions studied at the National Center of Medical Genetics (2005–2013)

Castelví LA, Barrios MA, Soriano TM, Morales RE, Méndez RLA, Maceiras RL, Suárez MU, Lavaut SK

Language: Spanish
References: 22
Page: 17-21
PDF size: 377.83 Kb.


ABSTRACT

Chromosome insertions are rare chromosomal rearrangements with three breakpoints. The incidence in classical studies is estimated in 1: 80 000; although an incidence of 1:500 has been detected by molecular cytogenetic techniques. We describe cases postnatally studied with a diagnosis of chromosome insertion between 2005 and 2013 in the cytogenetic laboratory. During the mentioned period, 8050 investigations were carried out using conventional cytogenetic techniques such as lymphocyte cultura, metaphase harvest and stainning with estándar GTG banding. Results: Four cases were identified with a positive diagnosis of chromosome insertion among intrachromosomal and interchromosomal insertions. The low incidence for this chromosome aberration was showed in classical studies and its presence in no phenotypically affected patients.


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